Test Details

Synonyms

Familial Cancer testing

Hereditary Cancer testing

Inherited Cancer testing

Use

This assay is intended for patients with a family history consistent with an inherited cancer syndrome.

Limitations

This assay is not designed to detect deep intronic variants, balanced translocations, large inversions, mosaicism or complex genomic rearrangements. Homopolymer regions and rare polymorphisms under primer sites can affect the performance of the assay. The presence of pseudogenes can interfere with the ability to detect variants in certain genes. This assay is not intended for use in patients who have received allogeneic bone marrow transplants, as it may not reflect the germline genetic status of these patients.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

The entire coding region of a panel of genes related to hereditary cancer is examined by next generation sequencing analysis. Additionally, portions of the flanking noncoding regions are also examined. Comprehensive deletion/ duplication testing is performed using microarray CGH for 16 genes, and by multiplex ligation-dependent probe amplification (MLPA) for the PMS2 gene. Genes tested in this panel include ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PTCH1, PMS2, RB1, SMARCB1, SUFU, TP53, and VHL. Clinically significant findings are confirmed by Sanger sequencing or qPCR. Results are reported using ACMG guidelines and nomenclature recommended by the Human Genome Variation Society (HGVS).

The entire coding region of a panel of genes related to hereditary cancer is examined by next generation sequencing analysis. Additionally, portions of the flanking noncoding regions are also examined. Comprehensive deletion/ duplication testing is performed using microarray CGH for 16 genes, and by multiplex ligation-dependent probe amplification (MLPA) for the PMS2 gene. Genes tested in this panel include ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PTCH1, RB1, SMARCB1, SUFU, TP53, and VHL. Clinically significant findings are confirmed by Sanger sequencing or qPCR. Results are reported using ACMG guidelines and nomenclature recommended by the Human Genome Variation Society (HGVS).

The entire coding region of a panel of genes related to hereditary cancer is examined by next generation sequencing analysis. Additionally, portions of the flanking noncoding regions are also examined. Comprehensive deletion/ duplication testing is performed using microarray CGH for 16 genes, and by multiplex ligation-dependent probe amplification (MLPA) for the PMS2 gene. Genes tested in this panel include ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PTCH1, PMS2, RB1, SMARCB1, SUFU, TP53, and VHL. Clinically significant findings are confirmed by Sanger sequencing or qPCR. Results are reported using ACMG guidelines and nomenclature recommended by the Human Genome Variation Society (HGVS).